Geometry.Net - Health_Conditions: Fragile X Syndrome

Fragile X Syndrome
A Policy Statement from the American College of Medical Genetics.
http://www.faseb.org/genetics/acmg/pol-16.htm

Extractions: Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.
Fragile X Syndrome
Single page on recognition of the condition in young children.
http://home.coqui.net/myrna/fragile.htm

Extractions: Fragile X syndrome is the most commonly inherited form of mental retardation. Although it is thought to be an X-linked recessive trait with variable expression and incomplete penetrance, 30% of all carrier women are also affected. The syndrome is called fragile-X because there exists a fragile site or gap at the end of the long arm of the X-chromosome in lymphocytes of affected patients when grown in a folate deficient medium. Carrier females typically have a 30 to 40% chance of giving birth to a retarded male and a 15 to 20% chance of having a retarded female. Further, there frequently exists a maternal family history for a relative with mental retardation or developmental and learning disabilities. Most studies have dealt with recognition of this syndrome in older children and young adults, but many of the physical features, behavioral characteristics, and family history features are apparent earlier. Prominent parental concerns that might bring such a child to a pediatricians attention include: Developmental delay, speech delay, short attention span or hyperactivity, mouthing of objects persisting at an age beyond expected, difficulty in disciplining the child, frequent temper tantrums, autistic-like behaviors such as rocking, talking to oneself, spinning, unusual hand movements, difficulty with transitions, preference for being alone, echolalia, poor eye contact; poor motor coordination; history of vomiting, spitting up or colic during infancy; history of frequent otitis media; self-abusive behavior; hand flapping; drooling persisting beyond expected; hypotonia; increase fighting with others; pica; hand/thumb sucking.
FRAXA - Fragile X Research Foundation
Nonprofit organization run by parents. Fighting to find a cure for fragile x syndrome and helping Fragile X Family s.
http://www.fraxa.org/

Extractions: Research News FRAXA's mission is to find effective treatments and a cure for all children and adults with Fragile X. FRAXA has funded over $8 million in research at universities around the world. Ben Oostra reports new results mGluR theory of Fragile X More Reseach News What's New? Join FRAXA Fall Fling nationwide! Host an event or attend one. Upcoming events "FRAXA, the Fragile X Research Foundation, has been hugely effective in raising money and in inducing Congress to support fragile X research.... experience shows that dedicated, resourceful, and, above all, motivated organizations like FRAXA sometimes do hold the key to cracking these diseases against the long odds. To those who take the biggest gambles financial and scientific sometimes, with luck go the biggest rewards."
About
A community of families in and around the WashingtonBaltimore metro area that have children affected by fragile x syndrome. Includes news, upcoming events, and resources.
http://www.mdfragilex.org/

Extractions: Welcome to the Maryland Fragile X Resource Group Web Site The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. We are a very active group providing mutual support and education, promoting awareness of Fragile X and actively participating in funding research on Fragile X. The group was founded in August of 1999 and currently supports 35 families. We welcome all who share this common interest and hope that you find the information presented on this site beneficial. What is Fragile X? Fragile X Syndrome is now recognized as the leading hereditary cause of developmental and learning disabilities. Approximately 1/400 individuals in the general population are believed to carry the gene for the condition. Males are usually more severely affected than females.
CMGS-Fragile X Syndrome/17.12.98
Describing fragile x syndrome.
http://www.ich.ucl.ac.uk/cmgs/frax98.htm
What Is Fragile X?
fragile x syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. It affects 1 in 2,000 males and 1 in 4,000 females. It is estimated that 1 in 259 females are carries of the premutation.
http://www.fraxsocal.org

Extractions: What is Fragile X syndrome? Fragile X syndrome is the most common inherited cause of mental impairment, affecting approximately 1 in 3,600 males and 1 in 4,000 to 6,000 females with the full mutation worldwide. It is estimated that 1 in 250 females and 1 in 700 males are carriers of the premutation. It is second only to Down Syndrome as a cause of mental retardation. Both males and females may be affected by a wide variety of symptoms. Fragile X syndrome appears in children of all ethnic, racial and socio-economic backgrounds. Our Mission Our organization was formed to promote public awareness of Fragile X syndrome with special emphasis on educators and health professionals; provide a forum for families of children with Fragile X to meet and share their ideas, concerns and problems; and support scientific research on Fragile X syndrome. Sign Our Guestbook View Our Guestbook
The National Fragile X Foundation - Fragile X Syndrome
Features information about the disease, its teatment, and inheritance.
http://www.fragilex.org/
Facts About Fragile X Syndrome
Brochure from the NICHD giving an overview of fragile x syndrome, including etiology, symptoms, and treatment of this congenital condition.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
What Is Fragile X Syndrome?
Fragile X is a hereditary/genetic condition which can impact families in many ways. It includes fragile x syndrome (FXS), the most common cause of
http://www.fragilex.org/html/what.htm

Extractions: JavaScript Menu, DHTML Menu Powered By Milonic Index what What is Fragile X? Fragile X is a hereditary/genetic condition which can impact families in many ways. It includes fragile X syndrome (FXS), the most common cause of genetically-inherited mental impairment ranging from subtle learning disabilities and a normal IQ, to severe cognitive or intellectual challenges (often still referred to as mental retardation) including autism or "autistic-like" behavior. Symptoms often include unique physical characteristics, behavioral deficits and delays in speech and language development. Fragile X also includes fragile X-associated tremor ataxia syndrome (FXTAS), a balance, tremor and memory condition that affects some older male carriers of the premutation. Fragile X can also include problems for female carriers such as early menopause, medically referred to as premature ovarian failure (POF). The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to keeping the Fragile X community well informed.
Fragile X Syndrome
fragile x syndrome Synonyms Martin-Bell Syndrome, Marker X Syndrome, FRAXA, X-Linked Mental Retardation and Macroorchidism
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Fragile X Syndrome - Diagnostic And Carrier Testing
A Policy Statement from the American College of Medical Genetics.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Autistic Behavior
Research into the relationship between autistic characteristics and fragile x syndrome (FXS) conducted by Don Bailey and Gary Mesibov of the University of North Carolina at Chapel Hill. Features project goals and summary of findings.
http://www.fpg.unc.edu/~fx/Pages/autistic.htm

Extractions: Many young children with fragile X syndrome are referred for an autism evaluation before they are ever diagnosed with fragile X due to similar early behavioral symptoms in the two disorders. Based on findings from early work in the longitudinal study, we concluded that research on the early expression of autistic features in young boys with fragile X may help distinguish between this disorder and autism. Collaboration on a study began with Dr. Gary Mesibov, an expert on autism and director of Division TEACCH, a clinical center at UNC specializing in the diagnosis and treatment of persons with autism and communication disorders. Boys with FXS participating in the CFXP longitudinal study in 1996-1997 were rated for signs of autistic behavior using the Childhood Autism Rating Scale (CARS) during a developmental assessment using the Battelle Developmental Inventory. A total of 57 ratings were completed on a sample of boys from 24 to 133 months of age.
The National Fragile X Foundation
You are visitor since 228-01 The National Fragile X Foundation's website contains over 1200 pages of content on fragile x syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Your Genes, Your Health
A multimedia guide to genetic, inherited disorders, and fragile x syndrome.
http://www.ygyh.org/

Extractions: Genome , a component of the DNA Interactive web site, features many of the genetic disorders profiled here on YGYH. Visit this new DNALC site to see where these disorders are found in the genomic "book of life." The information within this web site is for educational purposes only, and should not be used as medical advice. A physician should be consulted for any diagnosis and treatment options.
What Is Fragile X Syndrome?
What is Fragile X? Fragile X is a hereditary/genetic condition which can impact families in many ways. It includes fragile x syndrome (FXS), the
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Fragile X Syndrome
This is an open forum support eGroup for fragile x syndrome. It has been established for patients, fragile x syndrome Diagnostic and Carrier Testing
http://www.familyvillage.wisc.edu/lib_frgx.htm

Extractions: Web: http://www.fraxa.org/ FRAXA was founded in 1994 by three parents of children with Fragile X, Katie Clapp, Michael Tranfaglia MD, and Kathy May, to support scientific research aimed at finding a treatment and a cure for Fragile X. Fragile X research is drastically underfunded, considering its high prevalence, prospects for a cure, and the promise that this research holds for advancing understanding of other disorders like autism, Alzheimer's disease, and X-linked mental retardation. FRAXA funds grants and fellowships at universities all over the world. We have funded more than $7.5 million dollars in top-notch science. FRAXA's overhead expenses have always been just 9% or less of income, as we have just two paid staff and hundreds of volunteer parents. Since FRAXA was founded, the Fragile X field has grown tremendously, due in large part to our grass-roots efforts. You can help us accomplish much more.
FRAXA - Fragile X Research Foundation
Nonprofit organization run by parents. Fighting to find a cure for fragile x syndrome and helping Fragile X Family's.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Center For The Study Of Autism
fragile x syndrome, called MartinBell syndrome, is a genetic disorder and is the most Approximately 15% to 20% of those with fragile x syndrome exhibit
http://www.autism.org/fragilex.html

Extractions: Center for the Study of Autism, Salem, Oregon Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment. Approximately 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Behavior problems and speech/language delay are common features of Fragile X Syndrome. People with Fragile X syndrome also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities. Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features. Many hospitals and laboratories perform blood tests to diagnose Fragile X syndrome. Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. Also, families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder.
Fragile X Syndrome
fragile x syndrome Recognition in Young Children. fragile x syndrome is the most commonly inherited form of mental retardation.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Facts About Fragile X Syndrome
Brochure from the NICHD giving an overview of fragile x syndrome, including etiology, symptoms, and treatment of this congenital condition.
http://www.nichd.nih.gov/publications/pubs/fragilextoc.htm

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